M Fiddler - Academia.edu (original) (raw)

Papers by M Fiddler

Research paper thumbnail of Sexual differentiation and preimplantation cell growth

Human reproduction, 1994

Growth rates of human preimplantation embryos fertilized in vitro were assessed and compared to t... more Growth rates of human preimplantation embryos fertilized in vitro were assessed and compared to the sex of the pregnancy outcome. The likelihood of a liveborn male was significantly greater than that of a female if the mean number of cells/embryo was four or greater at the scheduled time of transfer (odds ratio of 6:1). This finding suggested that the Y chromosome expresses factors which influence embryonic growth rates immediately after fertilization.

Research paper thumbnail of At the crossroads: the intersection of the Internet and clinical oncology

The Internet is rapidly becoming a third party in the doctor-patient relationship. The World Wide... more The Internet is rapidly becoming a third party in the doctor-patient relationship. The World Wide Web, electronic mail (e-mail), and discussion groups have dramatically increased the quantity of medical and health information available to patients, who, in turn, vary greatly in their understanding of that newly discovered information. This article reviews the advantages and disadvantages of the Internet for both oncology patients and physicians. This forms the background for a discussion of three steps that clinical oncologists and other health care professionals can take to direct and control the potential of the Internet so as to optimize patient care. These steps include: (1) finding out what type of cancer information is being disseminated on the Web; (2) using Internet-derived material that patients bring to the clinic as a stepping-stone for patient education; and (3) becoming an active participant on the Web. Each of these strategies requires health professionals to be proact...

Research paper thumbnail of Discordance among blastomeres renders preimplantation genetic diagnosis for aneuploidy ineffective

Journal of Assisted Reproduction and Genetics, 2007

To investigate the contribution of discordance among blastomeres from the same embryo in the inte... more To investigate the contribution of discordance among blastomeres from the same embryo in the interpretation of blastomeres biopsied from day 3 embryos. 228 IVF embryos had two blastomeres removed and fluorescent in situ hybridization (FISH) was used to detect aneuploidy of chromosomes 13, 15, 16, 18, 21, 22, X and Y. Of the 228 embryos, 102 had complete FISH results for both blastomeres. When the 2 blastomeres of 102 embryos with successful FISH results were compared, 26 (25.5%) were concordant for all 8 chromosomes and 76 (74.5%) were discordant for one or more chromosomes. Among the 102 embryos, 12 (12%) were disomy in both blastomeres and 37 (36%) were disomic in all 8 chromosomes in one of the two blastomeres. Discordance among blastomeres from the same embryo appears to present a significant problem in interpreting results of embryos biopsied on day 3 and analyzed by FISH especially when most PGD's are done on single blastomeres.

Research paper thumbnail of Medically-assisted procreation: a maturing technology or a premature fear? Response to Testart and Sele

Research paper thumbnail of Fertilization and early embryology: Sexual differentiation and preimplantation cell growth

Human Reproduction

Growth rates of human preimplantation embryos fertilized in vitro were assessed and compared to t... more Growth rates of human preimplantation embryos fertilized in vitro were assessed and compared to the sex of the pregnancy outcome. The likelihood of a liveborn male was significantly greater than that of a female if the mean number of cells/embryo was four or greater at the scheduled time of transfer (odds ratio of 6:1). This finding suggested that the Y chromosome expresses factors which influence embryonic growth rates immediately after fertilization.

Research paper thumbnail of Enhancing your career through self-assessment

Journal of AHIMA / American Health Information Management Association

Research paper thumbnail of Is single umbilical artery a genetically controlled anomaly?

Research paper thumbnail of Sexual differentiation and preimplantation cell growth

Human reproduction (Oxford, England), 1994

Growth rates of human preimplantation embryos fertilized in vitro were assessed and compared to t... more Growth rates of human preimplantation embryos fertilized in vitro were assessed and compared to the sex of the pregnancy outcome. The likelihood of a liveborn male was significantly greater than that of a female if the mean number of cells/embryo was four or greater at the scheduled time of transfer (odds ratio of 6:1). This finding suggested that the Y chromosome expresses factors which influence embryonic growth rates immediately after fertilization.

Research paper thumbnail of The" Pandora" Box of population-based genetic carrier screening

Research paper thumbnail of Multiple carbohydrate-cleaving specificities in human acidic and neutral glycosidases

Biochimica et Biophysica Acta (BBA) - Enzymology, 1979

Research paper thumbnail of Sex ratio: a biological perspective of ‘Sex and the City’

Reproductive BioMedicine Online, 2002

Research paper thumbnail of Prenatal gene therapy: Prospects and issues

Research paper thumbnail of Assessment of fetal status in multiple gestation pregnancies using interphase FISH

Prenatal Diagnosis, 2001

The use of fluorescence in situ hybridization (FISH) for women with multiple gestation pregnancie... more The use of fluorescence in situ hybridization (FISH) for women with multiple gestation pregnancies has been evaluated. Women were referred for chromosome analysis because of advanced maternal age, abnormal ultrasound findings or a positive family history and/or prior to fetal reduction. FISH was successfully applied to all specimens obtained by amniocentesis or chorionic villus sampling (CVS). Based on FISH results, fetal-fetal contamination of specimens following CVS was 11.5% in twin pregnancies and 16% in triplet or higher multiples. FISH detected trisomy 21 in three cases with no false negatives or positives. Whereas FISH may provide rapid and useful assessment of fetal status in decision-making regarding fetal reduction, the present study also highlighted the obstetrical difficulty of ensuring a sample representative of each fetus following CVS in addition to the possibility of not identifying clinically significant chromosome aberrations using currently available FISH probes.

Research paper thumbnail of The expression of genes in human preimplantation embryos

Prenatal Diagnosis, 1998

The study of gene expression in human preimplantation embryos is establishing itself as a necessa... more The study of gene expression in human preimplantation embryos is establishing itself as a necessary dimension of developmental biology and medical genetics. Transcripts identified in human preimplantation embryos include housekeeping genes, transcription and growth factor genes, sex-determining genes, tissue-specific genes and novel genes, as well as genes of unknown function. Strategies are being developed which will eventually permit the most sophisticated gene expression studies on single human embryos of co-ordinated transcription and translational regulation. There is both a need for international co-operation for the systematic construction of expression maps and a need to establish databases of expression patterns during different stages of human development. Understanding how genes are regulated in humans is essential for understanding both normal development and disease. Until recently, studies of gene expression and regulation during embryogenesis were almost exclusively limited to prokaryotes and to eukaryotes other than man. The introduction of artificial reproductive technologies in conjunction with the development of recombinant molecular technologies applicable to single cells has made possible the study of human development at its earliest stages (Pergament and Bonnicksen, 1994). Although there are still enormous technical challenges, robust strategies have been, and continue to be, developed for connecting DNA sequence to such endophenotypes as timing and level of genes expression at the single cell level. Questions currently being asked in human developmental genetic studies concern the pronucleus, the zygote and the preimplantation embryo: what genes are expressed? When are they expressed? What functions do they perform and how, in sequence or in combination? And, what elements control and regulate their expression? This review provides an overview of current knowledge about the expression of different embryonic genes during early human development and discusses future prospects, which includes a need for international co-operation similar to the Human Genome Project.

Research paper thumbnail of Letter to the Editor. Is Single Umbilical Artery a Genetically Controlled Anomaly?

Research paper thumbnail of The role of the preimplantation geneticist in human cloning

Prenatal Diagnosis, 1999

If human cloning is to become a reality, the preimplantation geneticist must be responsible for d... more If human cloning is to become a reality, the preimplantation geneticist must be responsible for determining the indications for undertaking cloning and for establishing the risks and benefits of human cloning. The unresolved issue is whether a compelling argument can be made for cloning a human for therapeutic reasons while outweighing legal, moral and ethical objections. At present, 'whole person' cloning does not seem justified under any circumstance, whereas cloning for the replacement of diseased cells, tissues or organ systems, i.e. 'spare parts', seems to be a likely, acceptable application of cloning strategies for humans.

Research paper thumbnail of Adverse pregnancy outcome after a false-positive screen for down syndrome using multiple markers

Obstetrics & Gynecology, 1995

Research paper thumbnail of Expression of transcription regulating genes in human preimplantation embryos

Molecular Human Reproduction, 1995

Research paper thumbnail of Germline gene therapy: its time is near

Molecular Human Reproduction, 1996

Research paper thumbnail of A case-based approach to the development of practice-based competencies for accreditation of and training in graduate programs in genetic counseling

Journal of Genetic Counseling, 1996

Research paper thumbnail of Sexual differentiation and preimplantation cell growth

Human reproduction, 1994

Growth rates of human preimplantation embryos fertilized in vitro were assessed and compared to t... more Growth rates of human preimplantation embryos fertilized in vitro were assessed and compared to the sex of the pregnancy outcome. The likelihood of a liveborn male was significantly greater than that of a female if the mean number of cells/embryo was four or greater at the scheduled time of transfer (odds ratio of 6:1). This finding suggested that the Y chromosome expresses factors which influence embryonic growth rates immediately after fertilization.

Research paper thumbnail of At the crossroads: the intersection of the Internet and clinical oncology

The Internet is rapidly becoming a third party in the doctor-patient relationship. The World Wide... more The Internet is rapidly becoming a third party in the doctor-patient relationship. The World Wide Web, electronic mail (e-mail), and discussion groups have dramatically increased the quantity of medical and health information available to patients, who, in turn, vary greatly in their understanding of that newly discovered information. This article reviews the advantages and disadvantages of the Internet for both oncology patients and physicians. This forms the background for a discussion of three steps that clinical oncologists and other health care professionals can take to direct and control the potential of the Internet so as to optimize patient care. These steps include: (1) finding out what type of cancer information is being disseminated on the Web; (2) using Internet-derived material that patients bring to the clinic as a stepping-stone for patient education; and (3) becoming an active participant on the Web. Each of these strategies requires health professionals to be proact...

Research paper thumbnail of Discordance among blastomeres renders preimplantation genetic diagnosis for aneuploidy ineffective

Journal of Assisted Reproduction and Genetics, 2007

To investigate the contribution of discordance among blastomeres from the same embryo in the inte... more To investigate the contribution of discordance among blastomeres from the same embryo in the interpretation of blastomeres biopsied from day 3 embryos. 228 IVF embryos had two blastomeres removed and fluorescent in situ hybridization (FISH) was used to detect aneuploidy of chromosomes 13, 15, 16, 18, 21, 22, X and Y. Of the 228 embryos, 102 had complete FISH results for both blastomeres. When the 2 blastomeres of 102 embryos with successful FISH results were compared, 26 (25.5%) were concordant for all 8 chromosomes and 76 (74.5%) were discordant for one or more chromosomes. Among the 102 embryos, 12 (12%) were disomy in both blastomeres and 37 (36%) were disomic in all 8 chromosomes in one of the two blastomeres. Discordance among blastomeres from the same embryo appears to present a significant problem in interpreting results of embryos biopsied on day 3 and analyzed by FISH especially when most PGD's are done on single blastomeres.

Research paper thumbnail of Medically-assisted procreation: a maturing technology or a premature fear? Response to Testart and Sele

Research paper thumbnail of Fertilization and early embryology: Sexual differentiation and preimplantation cell growth

Human Reproduction

Growth rates of human preimplantation embryos fertilized in vitro were assessed and compared to t... more Growth rates of human preimplantation embryos fertilized in vitro were assessed and compared to the sex of the pregnancy outcome. The likelihood of a liveborn male was significantly greater than that of a female if the mean number of cells/embryo was four or greater at the scheduled time of transfer (odds ratio of 6:1). This finding suggested that the Y chromosome expresses factors which influence embryonic growth rates immediately after fertilization.

Research paper thumbnail of Enhancing your career through self-assessment

Journal of AHIMA / American Health Information Management Association

Research paper thumbnail of Is single umbilical artery a genetically controlled anomaly?

Research paper thumbnail of Sexual differentiation and preimplantation cell growth

Human reproduction (Oxford, England), 1994

Growth rates of human preimplantation embryos fertilized in vitro were assessed and compared to t... more Growth rates of human preimplantation embryos fertilized in vitro were assessed and compared to the sex of the pregnancy outcome. The likelihood of a liveborn male was significantly greater than that of a female if the mean number of cells/embryo was four or greater at the scheduled time of transfer (odds ratio of 6:1). This finding suggested that the Y chromosome expresses factors which influence embryonic growth rates immediately after fertilization.

Research paper thumbnail of The" Pandora" Box of population-based genetic carrier screening

Research paper thumbnail of Multiple carbohydrate-cleaving specificities in human acidic and neutral glycosidases

Biochimica et Biophysica Acta (BBA) - Enzymology, 1979

Research paper thumbnail of Sex ratio: a biological perspective of ‘Sex and the City’

Reproductive BioMedicine Online, 2002

Research paper thumbnail of Prenatal gene therapy: Prospects and issues

Research paper thumbnail of Assessment of fetal status in multiple gestation pregnancies using interphase FISH

Prenatal Diagnosis, 2001

The use of fluorescence in situ hybridization (FISH) for women with multiple gestation pregnancie... more The use of fluorescence in situ hybridization (FISH) for women with multiple gestation pregnancies has been evaluated. Women were referred for chromosome analysis because of advanced maternal age, abnormal ultrasound findings or a positive family history and/or prior to fetal reduction. FISH was successfully applied to all specimens obtained by amniocentesis or chorionic villus sampling (CVS). Based on FISH results, fetal-fetal contamination of specimens following CVS was 11.5% in twin pregnancies and 16% in triplet or higher multiples. FISH detected trisomy 21 in three cases with no false negatives or positives. Whereas FISH may provide rapid and useful assessment of fetal status in decision-making regarding fetal reduction, the present study also highlighted the obstetrical difficulty of ensuring a sample representative of each fetus following CVS in addition to the possibility of not identifying clinically significant chromosome aberrations using currently available FISH probes.

Research paper thumbnail of The expression of genes in human preimplantation embryos

Prenatal Diagnosis, 1998

The study of gene expression in human preimplantation embryos is establishing itself as a necessa... more The study of gene expression in human preimplantation embryos is establishing itself as a necessary dimension of developmental biology and medical genetics. Transcripts identified in human preimplantation embryos include housekeeping genes, transcription and growth factor genes, sex-determining genes, tissue-specific genes and novel genes, as well as genes of unknown function. Strategies are being developed which will eventually permit the most sophisticated gene expression studies on single human embryos of co-ordinated transcription and translational regulation. There is both a need for international co-operation for the systematic construction of expression maps and a need to establish databases of expression patterns during different stages of human development. Understanding how genes are regulated in humans is essential for understanding both normal development and disease. Until recently, studies of gene expression and regulation during embryogenesis were almost exclusively limited to prokaryotes and to eukaryotes other than man. The introduction of artificial reproductive technologies in conjunction with the development of recombinant molecular technologies applicable to single cells has made possible the study of human development at its earliest stages (Pergament and Bonnicksen, 1994). Although there are still enormous technical challenges, robust strategies have been, and continue to be, developed for connecting DNA sequence to such endophenotypes as timing and level of genes expression at the single cell level. Questions currently being asked in human developmental genetic studies concern the pronucleus, the zygote and the preimplantation embryo: what genes are expressed? When are they expressed? What functions do they perform and how, in sequence or in combination? And, what elements control and regulate their expression? This review provides an overview of current knowledge about the expression of different embryonic genes during early human development and discusses future prospects, which includes a need for international co-operation similar to the Human Genome Project.

Research paper thumbnail of Letter to the Editor. Is Single Umbilical Artery a Genetically Controlled Anomaly?

Research paper thumbnail of The role of the preimplantation geneticist in human cloning

Prenatal Diagnosis, 1999

If human cloning is to become a reality, the preimplantation geneticist must be responsible for d... more If human cloning is to become a reality, the preimplantation geneticist must be responsible for determining the indications for undertaking cloning and for establishing the risks and benefits of human cloning. The unresolved issue is whether a compelling argument can be made for cloning a human for therapeutic reasons while outweighing legal, moral and ethical objections. At present, 'whole person' cloning does not seem justified under any circumstance, whereas cloning for the replacement of diseased cells, tissues or organ systems, i.e. 'spare parts', seems to be a likely, acceptable application of cloning strategies for humans.

Research paper thumbnail of Adverse pregnancy outcome after a false-positive screen for down syndrome using multiple markers

Obstetrics & Gynecology, 1995

Research paper thumbnail of Expression of transcription regulating genes in human preimplantation embryos

Molecular Human Reproduction, 1995

Research paper thumbnail of Germline gene therapy: its time is near

Molecular Human Reproduction, 1996

Research paper thumbnail of A case-based approach to the development of practice-based competencies for accreditation of and training in graduate programs in genetic counseling

Journal of Genetic Counseling, 1996